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GDPD3 c.819+1189A>G
Variant ID: 16-30118345-T-C
NM_024307.2(
GDPD3
):c.819+1189A>G
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
American Journal Of Human Genetics
Giannuzzi, Giuliana G; Schmidt, Paul J PJ; Porcu, Eleonora E; Willemin, Gilles G; Munson, Katherine M KM; Nuttle, Xander X; Earl, Rachel R; Chrast, Jacqueline J; Hoekzema, Kendra K; Risso, Davide D; Männik, Katrin K; De Nittis, Pasquelena P; Baratz, Ethan D ED; , ; Herault, Yann Y; Gao, Xiang X; Philpott, Caroline C CC; Bernier, Raphael A RA; Kutalik, Zoltan Z; Fleming, Mark D MD; Eichler, Evan E EE; Reymond, Alexandre A
Publication Date: 2019-11-07
Variant appearance in text: rs12444415
PubMed Link:
31668704
Variant Present in the following documents:
Main text
View BVdb publication page